Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI

Neonatal maple syrup urine disease (MSUD) is associated with diffuse oedema and characteristic MSUD oedema. We present a newborn infant with two coexisting different types of oedema. The myelinated white matter showed a marked decrease in the water apparent diffusion coefficient (ADC) compatible with cytotoxic oedema. The unmyelinated white matter showed an increase in ADC, consistent with vasogenic-interstitial oedema. On follow-up studies, the cytotoxic oedema showed improvement, but the vasogenic-interstitial oedema progressed into brain atrophy.